Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2468 | 7627;7628;7629 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
| N2AB | 2468 | 7627;7628;7629 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
| N2A | 2468 | 7627;7628;7629 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
| N2B | 2422 | 7489;7490;7491 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
| Novex-1 | 2422 | 7489;7490;7491 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
| Novex-2 | 2422 | 7489;7490;7491 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
| Novex-3 | 2468 | 7627;7628;7629 | chr2:178773654;178773653;178773652 | chr2:179638381;179638380;179638379 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs886055300  |
None | 0.78 | D | 0.667 | 0.532 | 0.624260124922 | gnomAD-4.0.0 | 3.18148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.82393E-04 | 0 | 0 | 0 |
| V/L | rs1420278166 |
-0.898 | 0.011 | N | 0.311 | 0.322 | 0.296329037015 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1420278166 |
-0.898 | 0.011 | N | 0.311 | 0.322 | 0.296329037015 | gnomAD-4.0.0 | 1.36822E-06 | None | None | None | None | N | None | 0 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 8.99319E-07 | 0 | 0 |
| V/M | rs1420278166 |
None | 0.968 | D | 0.719 | 0.49 | 0.574600906166 | gnomAD-4.0.0 | 6.84112E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99319E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7523 | likely_pathogenic | 0.7232 | pathogenic | -2.359 | Highly Destabilizing | 0.78 | D | 0.667 | neutral | D | 0.529980032 | None | None | N |
| V/C | 0.9486 | likely_pathogenic | 0.942 | pathogenic | -2.252 | Highly Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.989 | likely_pathogenic | 0.9868 | pathogenic | -3.309 | Highly Destabilizing | 0.996 | D | 0.866 | deleterious | None | None | None | None | N |
| V/E | 0.9809 | likely_pathogenic | 0.9779 | pathogenic | -3.15 | Highly Destabilizing | 0.995 | D | 0.831 | deleterious | D | 0.667465932 | None | None | N |
| V/F | 0.5387 | ambiguous | 0.4857 | ambiguous | -1.47 | Destabilizing | 0.976 | D | 0.815 | deleterious | None | None | None | None | N |
| V/G | 0.8272 | likely_pathogenic | 0.8005 | pathogenic | -2.807 | Highly Destabilizing | 0.995 | D | 0.854 | deleterious | D | 0.62784541 | None | None | N |
| V/H | 0.9907 | likely_pathogenic | 0.9891 | pathogenic | -2.288 | Highly Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| V/I | 0.1062 | likely_benign | 0.1039 | benign | -1.126 | Destabilizing | 0.015 | N | 0.239 | neutral | None | None | None | None | N |
| V/K | 0.9892 | likely_pathogenic | 0.9874 | pathogenic | -2.02 | Highly Destabilizing | 0.988 | D | 0.833 | deleterious | None | None | None | None | N |
| V/L | 0.4314 | ambiguous | 0.4004 | ambiguous | -1.126 | Destabilizing | 0.011 | N | 0.311 | neutral | N | 0.488083817 | None | None | N |
| V/M | 0.4636 | ambiguous | 0.4252 | ambiguous | -1.349 | Destabilizing | 0.968 | D | 0.719 | prob.delet. | D | 0.628517139 | None | None | N |
| V/N | 0.9642 | likely_pathogenic | 0.9568 | pathogenic | -2.322 | Highly Destabilizing | 0.996 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9862 | likely_pathogenic | 0.9854 | pathogenic | -1.512 | Destabilizing | 0.996 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Q | 0.9804 | likely_pathogenic | 0.9773 | pathogenic | -2.295 | Highly Destabilizing | 0.996 | D | 0.821 | deleterious | None | None | None | None | N |
| V/R | 0.9812 | likely_pathogenic | 0.9783 | pathogenic | -1.635 | Destabilizing | 0.996 | D | 0.863 | deleterious | None | None | None | None | N |
| V/S | 0.9011 | likely_pathogenic | 0.8815 | pathogenic | -2.856 | Highly Destabilizing | 0.988 | D | 0.821 | deleterious | None | None | None | None | N |
| V/T | 0.7791 | likely_pathogenic | 0.7469 | pathogenic | -2.576 | Highly Destabilizing | 0.919 | D | 0.695 | prob.neutral | None | None | None | None | N |
| V/W | 0.9894 | likely_pathogenic | 0.9868 | pathogenic | -1.873 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.9482 | likely_pathogenic | 0.9373 | pathogenic | -1.6 | Destabilizing | 0.996 | D | 0.81 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.